Recessive diseases occur when a child inherits broken copies of a gene from both parents. Children with two broken copies of an important gene may suffer immune problems, organ abnormalities, and reduced abilities. Parents of a child with a recessive disease carry one broken copy and one normal copy. For many genes, one normal copy is enough to prevent health problems. However, this may not always be true. Lifelong exposure to a single broken copy of the gene may cause clinical issues that are milder than the child’s disease. We are asking whether parents of a child with a recessive disease have elevated risk for developing any disease. We expect to complete the work within two years. Identifying risk for disease caused by carrying a single broken copy of a gene would have a direct public health impact. We could inform parents of children with genetic diseases about their increased risk for specific clinical issues.
